Variant report

Variant	esv3404741
Chromosome Location	chr1:195518079-195520027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545480107	chr1:195518481-195518482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369509704	chr1:195518542-195518543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558073961	chr1:195518564-195518565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573063361	chr1:195518634-195518635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371620711	chr1:195518662-195518663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1576473	chr1:195518668-195518669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561885943	chr1:195518698-195518699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78310413	chr1:195518718-195518719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544749156	chr1:195518732-195518733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374634587	chr1:195518777-195518778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188576014	chr1:195518805-195518806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531721522	chr1:195518812-195518813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146933277	chr1:195518818-195518819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368223480	chr1:195518841-195518842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79874954	chr1:195518857-195518858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1854679	chr1:195518858-195518859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398053674	chr1:195518859-195518860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545055245	chr1:195518872-195518873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192773843	chr1:195518888-195518889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184051523	chr1:195518895-195518896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373673521	chr1:195518913-195518914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539052775	chr1:195518938-195518939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557063748	chr1:195518940-195518941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549234489	chr1:195518992-195518993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34122657	chr1:195518993-195518994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs398053675	chr1:195519003-195519004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567555184	chr1:195519016-195519017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199641733	chr1:195519017-195519018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35884001	chr1:195519018-195519019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114616075	chr1:195519020-195519021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568851379	chr1:195519085-195519086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188296571	chr1:195519102-195519103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147559862	chr1:195519108-195519109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12568272	chr1:195519165-195519166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183744067	chr1:195519221-195519222	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371211743	chr1:195519269-195519270	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116165599	chr1:195519317-195519318	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573907054	chr1:195519318-195519319	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376864572	chr1:195519335-195519336	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs61816745	chr1:195519392-195519393	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs543805040	chr1:195519399-195519400	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563038155	chr1:195519416-195519417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142666397	chr1:195519418-195519419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545459054	chr1:195519449-195519450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190566927	chr1:195519453-195519454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560303381	chr1:195519487-195519488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527666614	chr1:195519518-195519519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549294007	chr1:195519567-195519568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146897512	chr1:195519590-195519591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531827494	chr1:195519613-195519614	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum

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